IthaID: 3867



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: >6.5 Kb deletion HGVS Name: NG_000007.3:g.(63032_64585)_(71150_72080)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in an Indian female with hematology consistent with β-thalassaemia minor (RBC 5.27×10^12/L, Hb 13.0 g/dL, MCV 74.6 fL, MCH 24.7 pg, RDW 17.2%, reticulocytes 2.21%, HbA2 2.1% and elevated level of HbF 17.0%). MLPA analysis shown that the >6.5kbp deletion includes part of HBB and HBD.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64585
Size: 6.5 kb
Deletion involves: δ, β

Other details

Type of Mutation: Deletion
Ethnic Origin: Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/AContributor(s)DateComments
1Traeger Synodinos, Jan2021-10-01First report.
2Vrettou, Christina2021-10-01First report.
Created on 2021-10-05 11:09:03, Last reviewed on 2021-11-25 10:16:31 (Show full history)

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